Table 1 Points to consider for prioritizing genetic tests

Medical benefit

 Clinical benefit for tested individual

Tests where, based on the results, effective clinical treatment or prevention options exist, should be of higher priority than tests without effective interventions.

For rare diseases and long-benefit, evidence frequently is weak.

Individual behavior patterns (eg whether the treatment would be pursued) need to be accounted for to establish the benefit of a genetic test.

 Non-clinical benefit for tested individual

Consideration of benefit also should include health-related information by itself which may assist individuals and families in planning their life.

There is a need for more scientific evidence about the benefit for life decision making (‘empowerment’) incurred by different genetic tests.

It is unclear how non-actionable information should be accounted for.

 Benefit for family members

Consideration of benefit also should include benefits for the family members.

Also, the non-clinical benefits may apply to relatives.

Particularly for tests because of non-medical benefits, trade-offs with concerns for privacy or the right not to know may be relevant.

 Likelihood

Tests for patients with high a-priori risk of developing the disease (eg high-risk populations or even first-degree relatives) should be of higher priority than tests for patients with low a-priori risk.

Incomplete penetrance, that is, a low probability of overt symptoms needs to be incorporated in risk assessment.

High-risk individuals may be more likely to be detected as genetic cases in clinical practice than medium-risk individuals.

 Time window

It may be that the benefit from a test can only be obtained within a finite time window.

Criterion likely to be of higher relevance for a local perspective which also includes management issues than from a health-care system perspective.

Health need

 Severity

Tests for conditions with a severe impact on the patient’s health should be of higher priority than tests for comparatively mild diseases.

Severity can be expressed in reduced life expectancy or in reduced health related quality of life. Methodological details of measuring severity need to be considered because they can cause concerns, for example, if QALYs are used.

 Progression

Tests for conditions which may already have developed silently or even overtly in the tested individual should be of higher priority than tests in healthy individuals before the onset of disease.

Needs to be applied in context-dependent manner:

At a certain stage of progression clinical signs and symptoms may be more accurate and make genetic testing obsolete.

May be inversely related to medical benefit if benefit primarily arises from prevention in healthy or presymptomatic carriers.

Costs

 Costs

Tests with lower costs (and, thus, less other tests displaced) should be of higher priority than high-cost tests.

Consideration of costs should include savings elsewhere in health-care.

Further evidence from well-designed economic evaluations are needed.

Costs should not be the dominant but only one criterion among others.

Weighting the criteria